Prenatal diagnosis of nail patella syndrome: A case report

The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation. The movements of the elbow and knee joints were restricted and there was rotational deformity o...

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Detalles Bibliográficos
Autores principales: Padmanabhan, L D, Yesodharan, D, Nampoothiri, S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Musculoskeletal Radiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5644329/
https://www.ncbi.nlm.nih.gov/pubmed/29089684
http://dx.doi.org/10.4103/ijri.IJRI_438_16
Descripción
Sumario:The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation. The movements of the elbow and knee joints were restricted and there was rotational deformity of the knee joints. To our knowledge, this is the first report of in-utero restriction of limb movements in a fetus with NPS.

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